Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.
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Nakata K, Kobayashi K, Yanagi H, Shimakura Y, Tsuchiya S, Arinami T, Hamaguchi H
Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.
Biochem Biophys Res Commun. 1993 Oct 29;196(2):950-5.
- PubMed ID
- 8240372 [ View in PubMed]
- Abstract
Primary hypoalphalipoproteinemia is associated with atherosclerosis and exhibits significant familial aggregation. To reveal the presence of autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene, the apolipoprotein A-I gene was analyzed in a Japanese family with low levels of HDL cholesterol and apolipoprotein A-I. An insertion of a C in the region of the seven C run between codons 3 and 5 was detected in the apolipoprotein A-I gene. The heterozygous state for the mutation was associated with approximately 50% of the normal HDL cholesterol levels and of the normal apolipoprotein A-I levels. The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene.